This website provides information on patients with mutations in the TANC2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TANC2 gene is a multisystem disorder characterized by developmental delay, possible facial dimorphisms, intellectual disability, ASD, speech and language delay, motor delay, seizures, psychiatric disorders. Phenotypic overlap with Angelman-Rett phenotypic spectrum has been noted. High phenotypic variability has been observed.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TANC2 gene.
Alessandra Murgia, MD, PhD, Department of Women's and Children's Health, University of Padua, Padua, Italy, firstname.lastname@example.org
Elisa Bettella, PhD, Laboratory of Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padua, Padua, Italy, email@example.com